Diagnosis

7 gene regions identified for coeliac disease

Yesterday researchers announced that they have identified seven gene regions linked to causing coeliac disease.

Also the research found that four of these gene regions are responsible for a predisposition to Type 1 diabetes (the type which occurs from birth), indicating that these discoveries may have broad implications for a range of inflammatory or autoimmune diseases.

Previous studies identified a genetic region on chromosome four associated with coeliac disease. In this study, the same research group identified seven new genetic regions associated with an increased risk of coeliac disease. They compared genetic markers in people with and without coeliac disease and then assessed about 1,000 of the strongest markers in a further 5,000 samples.

The results, published in Nature Genetics (Hunt, K. Nature Genetics, March 2, 2008), identified seven new genetic risk regions associated with celiac disease. Of those seven mutations, six involve genes that control immune responses (four of these, presumably, being the diabetic-type response).

The research team included collaborators from Ireland, the Netherlands, and the Wellcome Trust Sanger Institute, and was led by David van Heel, Professor of Gastrointestinal Genetics at Barts and The London School of Medicine and Dentistry.

Professor van Heel said: “So far our findings explain nearly half of the heritability of coeliac disease – now studies with many more samples from individuals with coeliac disease are needed to identify the precise causal genetic variants from each region, and understand how these influence biological processes.”

Does this mean we may be a step closer to a solution?

We already know that coeliac disease and diabetes are linked – and that people with some other auto-immune problems may be helped with a gluten free diet. It’s good to have scientific confirmation of what people believe to be the case, and every tiny piece of additional information is moving us closer to a solution to these problems. I also think it is great to see how international these research groups seem to be.

It would be good to know how to volunteer to help with these studies – I’d be happy to donate my blood or DNA, and to persuade my daughter to do the same. We did it before (when she was about three) …

EDIT: UPDATE

I’ve just gone through my pile of post, and in the most recent issue of Crossed Grain is exactly the information needed.

If you’d like to participate in the next stage of this research by donating some saliva, you should request a pack from David van Heel (email: David van Heel). This pack will be sent to you by post, with a pre-paid envelope for return, and will contain an information sheet, a consent form and a small vial to provide a small sample of spit. If you can recruit an unrelated person without coeliac disease to do the same, that would be great.

I’m just off to talk to my daughter about this. I wonder who we can ask to spit in a vial for us?

The stripper, her nurse’s uniform and coeliac disease

An extraordinary plotline for a UK hospital soap today, announced in The Sun:

Hayley Tamaddon is … stripper Alison who goes to hospital as she is stuck in her skin-tight PVC nurse’s uniform.

An ITV1 spokeswoman said: “Alison’s stomach has swollen mid-act so she’s stuck in her costume! Then she is diagnosed with Coeliac Disease and needs a bowel biopsy.

“But Alison doesn’t want her expensive outfit cut off until her husband – who doesn’t know she’s a stripper – arrives on the scene! But he’s got a secret too!”

Nice to have exposure for coeliac disease, but this seems a most unlikely route to diagnosis to me. For most people it takes months – usually years – to get a diagnosis. I’ve never heard of anyone diagnosed in A&E before. Yes, I do know this is made-up, but it would be nice if it was a bit more realistic. More likely, the stripper would be wasting away gradually – so, skinny arms and legs, bloated belly, bad skin and look terribly tired – and keep having to leave the stage in a hurry to get to the bathroom …

Anybody out there who had to have their clothes cut off for an emergency diagnosis of coeliac disease? (And a ‘bowel biopsy’?)

Gluten Free? Genetic testing one step closer

A new genetic risk factor for celiac disease has been found, and the researchers believe it could lead to improved diagnostics and treatment.

People with celiac disease (coeliac disease) do not have a protective DNA sequence in a particular gene region – people without celiac disease do have this. The researchers say that this DNA sequence leads to the production of proteins which control inflammation – without this sequence, there would be fewer anti-inflammatory proteins.

This study was headed by David van Heel, Professor of Gastrointestinal Genetics at Queen Mary, University of London, and was funded by Coeliac UK and the Wellcome Trust.

This is a great finding – but it will take a long time for this to filter through to improved diagnostics and treatment, as it always does. Still … bring it on! It would be great to know who else in a family group has the genetic deficiency, and even better if there were treatment available.

Watch this space.

Reasons to avoid gluten

Have you decided to give up gluten? There are a number of reasons why you might:

  • digestive health.

    People diagnosed with celiac disease (known as coeliac disease in the UK) are instructed to remove gluten from their diet. That means anything that contains wheat, barley or rye – and usually oats too. This may also help people diagnosed with Irritable Bowel Syndrome.

  • skin health.

    People with dermatitis herpetiformis are also advised to avoid gluten – and some studies have found that people with psoriasis are also helped by a gluten free diet. I have also heard that eczema can be helped in this way too.

  • mental health.

    ‘Brain fog’ is often cited as a symptom that people with CD suffer pre-diagnosis. Depression may be relieved with a gluten free diet – and many, many parents report that the behaviour of children improves when diagnosis of CD is made, and a gluten free diet started. But there are other (sadly, less reversible) reasons to exclude gluten. In some cases of autism, a gluten-free casein-free diet can help; schizophrenics are also advised that a gluten free diet can help.

  • allergic reaction.

    While not necessarily celiac, some people can have an allergy to the protein found in wheat – as to any other food – that requires a wheat-free diet (which need not necessarily be a gluten-free diet).

Whichever is your reason for choosing to avoid eating gluten, I hope that you find something useful in this blog. If you’re new to avoiding gluten, you could start with:

I’m glad you visited – do leave me a comment to let me know you were here.

So: take a quick look at this chart …

You’ve been diagnosed as needing a gluten-free diet, and you’ve been following the diet for a while – what follow up tests should you expect?

Our daughter goes annually now to see her paediatrician* for a checkup – it used to be every six months when she was younger, and newly diagnosed, but we’re old hands at this now, and she’s doing well.

We discuss:

  • her growth (height and weight) against the standard growth charts, to be sure she’s growing in all the right places and directions
  • her eating and sleep patterns
  • her general health and her rate of maturation (puberty)
  • and yes, the dreaded poo questions. Have you all seen the poo chart? It has 7 photos of different stool samples, and she has to identify her “standard product”. Fun for all the family to play …

The aim should be to produce something like number 4!

Then the doctor orders some tests – usually some blood tests to be sure that she is sticking to her diet and that everything is working OK, and a bone age scan.

This last isn’t the same as a bone density scan (which I imagine you would need as an older person), but assesses how well her bones are growing against her chronological age. In the ‘old days’, soon after diagnosis, her bones were several years behind her real age, but they seem to be catching up now.

Then that’s it for another year.

Other tests you might receive include:

  • blood tests for vitamin and mineral deficiencies
  • thyroid screen – this is because coeliacs have a greater chance of getting an underactive thyroid, with weight gain, feeling tired, cold and depressed. (An overactive thyroid – also possible – can cause weight loss)
  • a bone density scan – to check for osteoporosis, a known risk for people who fail to absorb nutrition well.
  • liver enzyme tests – just to check everything is working OK

And of course any other tests that might be needed in your specific circumstances, such as lactose intolerance tests.

Healing progress can be monitored by regular retests. Children generally recover within a few months; adults may take several years. I hope your recovery will be swift – and that you go back to scoring no.4 on the Bristol stool chart!

*Here in the UK, the paediatrician is the consultant your child (0-16) is referred to if there is some specialist problem that your GP (general practitioner) can’t deal with. The GP is the frontline family doctor, and the consultants are the secondline health providers based in hospitals. Healthy children – or those with straightforward childhood illnesses – would never see a paediatrician. My two other children haven’t, despite having had asthma, a heart murmur and broken limbs …